XPV
MCID: XRD010
MIFTS: 58

Xeroderma Pigmentosum, Variant Type (XPV) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 54 50 13
Xeroderma Pigmentosum 12 71 23 50 24 25 13 52 42 14
Xpv 12 50 56 66
Xeroderma Pigmentosum with Normal Dna Repair Rates 12 50 66
Xeroderma Pigmentosum Variant Type 12 66 14
Xp 50 24 25
Photosensitivity with Defective Dna Synthesis 12 50
Xeroderma Pigmentosum Variant 56 29
Desanctis-Cacchione Syndrome 24 25
Xeroderma Pigmentosa 50 24
De Sanctis-Cacchione Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

32
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 278750
Disease Ontology 12 DOID:0050427 DOID:0110847
ICD10 33 Q82.1
MeSH 42 D014983
NCIt 47 C3452
SNOMED-CT 64 44600005
Orphanet 56 ORPHA90342
UMLS via Orphanet 70 C0432328 C1848410
MESH via Orphanet 43 C536766
ICD10 via Orphanet 34 Q82.1
MedGen 40 C1848410
UMLS 69 C0043346

Summaries for Xeroderma Pigmentosum, Variant Type

NIH Rare Diseases : 50 xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop by the time a child is 2 years old. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least nine genes have been identified. the condition is inherited in an autosomal recessive manner. people with xp need total protection from sunlight. this includes protective clothing, sunscreen, and dark sunglasses when out in the sun. to prevent skin cancer, medications like retinoid creams may be prescribed. skin cancers that do develop should be treated using standard practices. last updated: 6/24/2016

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to cerebrooculofacioskeletal syndrome 2 and xeroderma pigmentosum, group f, and has symptoms including photophobia, dry skin and keratitis. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

Genetics Home Reference : 25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM : 54 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

UniProtKB/Swiss-Prot : 66 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Wikipedia : 71 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews: NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
id Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 2 31.2 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
2 xeroderma pigmentosum, group f 12.7
3 xeroderma pigmentosum, group g 12.7
4 xeroderma pigmentosum, group d 12.7
5 xeroderma pigmentosum, group c 12.7
6 xeroderma pigmentosum, group a 12.7
7 xeroderma pigmentosum, group b 12.7
8 xeroderma pigmentosum group e 12.5
9 xeroderma pigmentosum, group e, ddb-negative subtype 12.3
10 xeroderma pigmentosum-cockayne syndrome complex 12.2
11 xeroderma pigmentosum, type 9 12.0
12 ercc1-related xeroderma pigmentosum 12.0
13 ercc5-related xeroderma pigmentosum 11.9
14 polh-related xeroderma pigmentosum 11.9
15 xpa-related xeroderma pigmentosum 11.9
16 xpc-related xeroderma pigmentosum 11.9
17 xeroderma pigmentosum, type 2 11.9
18 ddb2-related xeroderma pigmentosum 11.9
19 ercc2-related xeroderma pigmentosum 11.9
20 ercc3-related xeroderma pigmentosum 11.9
21 ercc4-related xeroderma pigmentosum 11.9
22 chromosome xp deletion 11.9
23 cockayne syndrome, type a 11.7
24 de sanctis-cacchione syndrome 11.5
25 cerebrooculofacioskeletal syndrome 3 11.3
26 cockayne syndrome, type b 11.2
27 cerebrooculofacioskeletal syndrome 4 11.0
28 basal cell carcinoma 1 11.0
29 cerebrooculofacioskeletal syndrome 1 11.0
30 cockayne syndrome 10.7
31 melanoma 10.5
32 squamous cell carcinoma 10.5
33 basal cell carcinoma 10.4
34 lung cancer 10.3
35 ataxia 10.3
36 angiosarcoma 10.3
37 supranuclear palsy, progressive, 3 10.2 DDB1 DDB2 XPC
38 thymus lymphoma 10.2 ERCC2 TP53 XPA
39 autoimmune disease 3 10.2 ERCC1 ERCC2 ERCC3
40 macular degeneration, age-related 5 10.2 ERCC2 ERCC5
41 prostatitis 10.2
42 gastric cancer 10.2
43 prostate cancer 10.2
44 breast cancer 10.2
45 specific language impairment 10.2 ERCC2 ERCC3 ERCC5
46 confetti-like macular atrophy 10.2 ERCC2 ERCC3 ERCC4 ERCC5
47 alpha chain disease 10.2 ERCC2 POLH TP53 XPA
48 qazi markouizos syndrome 10.2 ERCC1 ERCC2 ERCC3 XPA
49 keratoacanthoma 10.1
50 ovarian cancer 10.1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to Xeroderma Pigmentosum, Variant Type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 dry skin 56 32 Frequent (79-30%) HP:0000958
3 keratitis 56 32 Frequent (79-30%) HP:0000491
4 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
5 melanoma 56 32 Frequent (79-30%) HP:0002861
6 squamous cell carcinoma 56 32 Frequent (79-30%) HP:0002860
7 hypopigmentation of the skin 56 32 Very frequent (99-80%) HP:0001010
8 telangiectasia 56 32 Frequent (79-30%) HP:0001009
9 poikiloderma 56 32 Very frequent (99-80%) HP:0001029
10 dermal atrophy 56 32 Frequent (79-30%) HP:0004334
11 basal cell carcinoma 56 32 Frequent (79-30%) HP:0002671
12 freckles in sun-exposed areas 56 32 Very frequent (99-80%) HP:0007603
13 ataxia 32 HP:0001251
14 arthralgia 32 HP:0002829
15 fatigue 32 HP:0012378
16 fever 32 HP:0001945
17 seizures 32 HP:0001250
18 abnormality of extrapyramidal motor function 32 HP:0002071
19 spasticity 32 HP:0001257
20 failure to thrive 32 HP:0001508
21 eeg abnormality 32 HP:0002353
22 developmental regression 32 HP:0002376
23 cataract 32 HP:0000518
24 delayed skeletal maturation 32 HP:0002750
25 craniofacial hyperostosis 32 HP:0004493
26 abnormality of the teeth 32 HP:0000164
27 microcephaly 32 HP:0000252
28 sensorineural hearing impairment 32 HP:0000407
29 optic atrophy 32 HP:0000648
30 short stature 32 HP:0004322
31 cognitive impairment 32 HP:0100543
32 aminoaciduria 32 HP:0003355
33 hyperkeratosis 32 HP:0000962
34 peripheral neuropathy 32 HP:0009830
35 opacification of the corneal stroma 32 HP:0007759
36 strabismus 32 HP:0000486
37 thin skin 32 HP:0000963
38 cryptorchidism 32 HP:0000028
39 melanocytic nevus 32 HP:0000995
40 reduced tendon reflexes 32 HP:0001315
41 hypopigmented skin patches 32 HP:0001053
42 cerebral cortical atrophy 32 HP:0002120
43 hypogonadism 32 HP:0000135
44 intellectual disability, progressive 32 HP:0006887
45 blepharitis 32 HP:0000498
46 decreased testicular size 32 HP:0008734
47 conjunctival telangiectasia 32 HP:0000524
48 erythema 32 HP:0010783
49 conjunctivitis 32 HP:0000509
50 alopecia 32 HP:0001596

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.89 RPA1 TP53 XPA XPC XRCC1 XRCC3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 ERCC4 RPA1 TP53 XRCC1 CUL4A XRCC3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 RPA1 TP53 XRCC1 CUL4A XRCC3 DDB2

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2 growth/size/body region MP:0005378 10.35 CETN2 CUL4A DDB2 ERCC1 ERCC2 ERCC3
3 homeostasis/metabolism MP:0005376 10.28 TP53 XPA XPC XRCC1 CUL4A ERCC1
4 hematopoietic system MP:0005397 10.23 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
5 behavior/neurological MP:0005386 10.22 ERCC1 ERCC2 ERCC3 HPRT1 OGG1 RAD23B
6 immune system MP:0005387 10.22 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
7 mortality/aging MP:0010768 10.21 HPRT1 OGG1 RAD23B RPA1 TP53 XPA
8 integument MP:0010771 10.11 HPRT1 POLH RAD23B TP53 XPA XPC
9 craniofacial MP:0005382 10.04 CETN2 ERCC3 HPRT1 POLH RAD23B TP53
10 neoplasm MP:0002006 10 XPA XPC XRCC1 CUL4A DDB2 ERCC1
11 liver/biliary system MP:0005370 9.92 ERCC5 HPRT1 OGG1 TP53 XPA CUL4A
12 pigmentation MP:0001186 9.35 ERCC2 HPRT1 POLH TP53 XPA
13 vision/eye MP:0005391 9.28 CETN2 DDB1 ERCC2 ERCC3 HPRT1 RAD23B

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 2
3 Angiogenesis Modulating Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Immunosuppressive Agents Phase 2
7
Isotretinoin Approved 4759-48-2 5538 5282379
8 Dermatologic Agents
9 Protective Agents
10 Radiation-Protective Agents
11 Sunscreening Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3
2 Lenalidomide in Kaposi Disease Associated With HIV Infection Terminated NCT01282047 Phase 2
3 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
4 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
5 Isotretinoin in Preventing Skin Cancer Completed NCT00025012
6 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
7 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
8 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Not yet recruiting NCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type 29
2 Xeroderma Pigmentosum 29 24 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

39
Skin, Eye

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

id Title Authors Year
1
Three school-age cases of xeroderma pigmentosum variant type. ( 23651273 )
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. ( 23630442 )
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. ( 18703314 )
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. ( 17344931 )
2007

Variations for Xeroderma Pigmentosum, Variant Type

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

66
id Symbol AA change Variation ID SNP ID
1 POLH p.Arg111His VAR_021227 rs758423288
2 POLH p.Thr122Pro VAR_021228
3 POLH p.Gly263Val VAR_021230
4 POLH p.Arg361Ser VAR_021232
5 POLH p.Lys535Glu VAR_021234 rs56307355
6 POLH p.Lys589Thr VAR_021236 rs121908565
7 POLH p.Arg93Pro VAR_070836 rs756931657
8 POLH p.Val266Asp VAR_070837
9 POLH p.Gly295Arg VAR_070838
10 POLH p.Thr692Ala VAR_070839 rs199562456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 POLH POLH, 13-BP DEL, NT343 deletion Pathogenic
2 POLH POLH, 4-BP DEL, NT289 deletion Pathogenic
3 POLH POLH, 2-BP DEL, NT770 deletion Pathogenic
4 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh37 Chromosome 6, 43572383: 43572383
5 POLH POLH, DEL AND TRP297TER deletion Pathogenic
6 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh37 Chromosome 6, 43555112: 43555112
7 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh37 Chromosome 6, 43578333: 43578333
8 POLH POLH, 104-BP DEL, NT661 deletion Pathogenic
9 POLH POLH, 1-BP DEL, 207G deletion Pathogenic
10 POLH POLH, 3-BP DEL, NT222 deletion Pathogenic
11 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Pathogenic rs56307355 GRCh37 Chromosome 6, 43581755: 43581755
12 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh37 Chromosome 6, 43581918: 43581918
13 POLH NM_006502.2(POLH): c.764+1G> A single nucleotide variant Pathogenic rs772570523 GRCh38 Chromosome 6, 43601092: 43601092
14 POLH NM_006502.2(POLH): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs759607901 GRCh38 Chromosome 6, 43604637: 43604637
15 POLH NM_006502.2(POLH): c.490G> T (p.Glu164Ter) single nucleotide variant Pathogenic rs767433001 GRCh37 Chromosome 6, 43555226: 43555226
16 POLH NM_006502.2(POLH): c.725C> G (p.Ser242Ter) single nucleotide variant Pathogenic rs745778317 GRCh37 Chromosome 6, 43568789: 43568789
17 POLH NM_006502.2(POLH): c.1661delA (p.Asn555Thrfs) deletion Pathogenic rs886039225 GRCh37 Chromosome 6, 43581813: 43581813
18 POLH NM_006502.2(POLH): c.1075-?_1244+?del deletion Pathogenic

Expression for Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for Xeroderma Pigmentosum, Variant Type

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2
Show member pathways
12.84 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.67 CUL4A DDB1 OGG1 RPA1 XRCC1
4 12.43 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5
Show member pathways
12.19 ERCC1 ERCC4 POLH RPA1 XRCC3
6
Show member pathways
12.16 CUL4A DDB1 POLH POLI RPA1
7
Show member pathways
12.01 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 OGG1
8 11.94 DDB2 ERCC5 TP53 XPC
9
Show member pathways
11.83 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
10 11.78 ERCC1 ERCC4 POLH POLI RPA1
11 11.62 ERCC1 POLH TP53 XPA
12 11.56 ERCC2 ERCC3 TP53 XPA XPC
13 11.31 ERCC1 ERCC2 ERCC3 ERCC4 POLH XPA

GO Terms for Xeroderma Pigmentosum, Variant Type

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.65 CUL4A DDB1 DDB2
2 DNA replication factor A complex GO:0005662 9.63 ERCC5 RPA1 XPA
3 nuclear chromosome, telomeric region GO:0000784 9.63 DDB1 ERCC1 ERCC4 RPA1 XRCC1 XRCC3
4 holo TFIIH complex GO:0005675 9.61 ERCC2 ERCC3 ERCC5
5 nucleoplasm GO:0005654 9.6 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 replication fork GO:0005657 9.55 TP53 XRCC3
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.54 CUL4A DDB1
8 ERCC4-ERCC1 complex GO:0070522 9.54 ERCC1 ERCC4 XRCC1
9 core TFIIH complex GO:0000439 9.52 ERCC2 ERCC3
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB1 DDB2
11 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
12 nucleotide-excision repair complex GO:0000109 9.49 ERCC1 ERCC4
13 XPC complex GO:0071942 9.43 CETN2 RAD23B XPC
14 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 ERCC4 TP53
15 nucleus GO:0005634 10.36 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 42)
id Name GO ID Score Top Affiliating Genes
1 base-excision repair GO:0006284 9.97 OGG1 RPA1 TP53 XPA XRCC1
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.96 CUL4A DDB1 RAD23B TP53
3 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.96 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
4 UV-damage excision repair GO:0070914 9.93 DDB1 DDB2 ERCC1 XPA XPC
5 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 RPA1 XRCC1 XRCC3
6 interstrand cross-link repair GO:0036297 9.91 ERCC1 ERCC4 RPA1 XRCC3
7 embryonic organ development GO:0048568 9.89 ERCC1 ERCC2 ERCC3 RAD23B
8 DNA recombination GO:0006310 9.86 ERCC1 RPA1 XRCC3
9 regulation of mitotic cell cycle phase transition GO:1901990 9.86 DDB1 ERCC2 ERCC3 XPC
10 multicellular organism growth GO:0035264 9.85 ERCC1 ERCC2 XPA
11 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
12 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 ERCC4 XRCC1
13 DNA damage response, detection of DNA damage GO:0042769 9.8 CUL4A DDB1 RPA1
14 translesion synthesis GO:0019985 9.8 POLH POLI RPA1
15 telomeric DNA-containing double minutes formation GO:0061819 9.76 ERCC1 ERCC4 XRCC1
16 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.75 ERCC1 ERCC4 XRCC1
17 error-prone translesion synthesis GO:0042276 9.69 POLI RPA1
18 error-free translesion synthesis GO:0070987 9.68 POLH RPA1
19 negative regulation of telomerase activity GO:0051974 9.68 ERCC4 TP53
20 t-circle formation GO:0090656 9.67 ERCC1 XRCC3
21 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.67 ERCC4 XRCC3
22 histone H2A monoubiquitination GO:0035518 9.67 DDB1 DDB2
23 response to auditory stimulus GO:0010996 9.66 XPA XPC
24 response to UV-C GO:0010225 9.66 ERCC5 POLH
25 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.65 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
26 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
27 pyrimidine dimer repair GO:0006290 9.64 DDB2 POLH
28 negative regulation of telomere maintenance GO:0032205 9.63 ERCC1 ERCC4
29 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
30 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.28 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
31 cellular response to DNA damage stimulus GO:0006974 10.47 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
32 DNA repair GO:0006281 10.43 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
33 nucleotide-excision repair GO:0006289 10.3 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
34 nucleotide-excision repair, DNA incision GO:0033683 10.17 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
35 global genome nucleotide-excision repair GO:0070911 10.14 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
36 nucleotide-excision repair, preincision complex assembly GO:0006294 10.11 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
37 viral process GO:0016032 10.05 CUL4A DDB1 ERCC2 ERCC3 TP53
38 nucleotide-excision repair, DNA damage recognition GO:0000715 10.05 CETN2 CUL4A DDB1 DDB2 RAD23B XPA
39 response to UV GO:0009411 10.02 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 XPA
40 transcription-coupled nucleotide-excision repair GO:0006283 10.02 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
41 response to oxidative stress GO:0006979 10 ERCC1 ERCC2 ERCC3 OGG1 XPA
42 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4
2 protein N-terminus binding GO:0047485 9.77 ERCC2 ERCC3 ERCC4 ERCC5 TP53
3 nuclease activity GO:0004518 9.71 ERCC1 ERCC4 ERCC5
4 endonuclease activity GO:0004519 9.71 ERCC1 ERCC4 ERCC5 OGG1
5 DNA-dependent ATPase activity GO:0008094 9.61 ERCC2 ERCC3 XRCC3
6 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.52 ERCC2 ERCC3
7 TFIID-class transcription factor binding GO:0001094 9.51 ERCC1 ERCC4
8 single-stranded DNA binding GO:0003697 9.5 ERCC1 ERCC4 ERCC5 RAD23B RPA1 XPC
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC1 ERCC4
10 damaged DNA binding GO:0003684 9.47 DDB1 DDB2 ERCC1 ERCC3 ERCC4 OGG1
11 bubble DNA binding GO:0000405 9.46 ERCC5 XPC
12 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC1 ERCC4 XRCC1
13 protein binding GO:0005515 10.32 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
14 DNA binding GO:0003677 10.03 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Sources for Xeroderma Pigmentosum, Variant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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